Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KIFC1	3833	broad.mit.edu	37	6	33371611	33371611	+	Missense_Mutation	SNP	G	G	A	rs146314962		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:33371611G>A	uc003oef.4	+	5	911	c.461G>A	c.(460-462)cGt>cAt	p.R154H	KIFC1_uc011drf.2_Missense_Mutation_p.R146H	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	154					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AAACGGTGCCGTGAGAGGACT	0.552000													14	203					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089133	57089133	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:57089133A>T	uc002qnl.4	+	5	2012	c.1336A>T	c.(1336-1338)Att>Ttt	p.I446F	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACATCAGAGAATTCATACAGG	0.418000													5	109					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6209463	6209463	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:6209463C>G	uc001amb.2	-	7	1115	c.1004G>C	c.(1003-1005)gGt>gCt	p.G335A	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	335					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATAGCCGTCACCATCATCAAC	0.582000													15	21					0	0	1	0	0
STXBP6	29091	broad.mit.edu	37	14	25325252	25325252	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:25325252C>T	uc001wpu.3	-	3	1056	c.341G>A	c.(340-342)aGc>aAc	p.S114N	STXBP6_uc001wpv.3_Missense_Mutation_p.S114N|STXBP6_uc001wpw.3_Missense_Mutation_p.S114N|STXBP6_uc001wpx.1_Non-coding_Transcript	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	Homo sapiens syntaxin binding protein 6 (amisyn) (STXBP6), mRNA.	114					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TGACGCTGTGCTGGCTACCCA	0.423000													4	57					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357197	36357197	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:36357197C>G	uc002ocb.4	+	14	2142	c.1930C>G	c.(1930-1932)Cca>Gca	p.P644A	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Missense_Mutation_p.P606A|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	644	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGACTTCAACCCACACCTGGG	0.622000													6	141					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38095663	38095663	+	Silent	SNP	G	G	A	rs149994413	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:38095663G>A	uc003xlc.3	+	4	758	c.558G>A	c.(556-558)acG>acA	p.T186T	DDHD2_uc003xla.2_Silent_p.T186T|DDHD2_uc003xlb.3_Silent_p.T186T|DDHD2_uc011lbl.1_Intron	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	186			T -> M (in dbSNP:rs2306899).		lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CAACACCCACGGAGCAGGGTC	0.408000													20	7					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144855783	144855783	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:144855783G>A	uc021ouh.1	-	40	7072	c.6770C>T	c.(6769-6771)gCg>gTg	p.A2257V	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.A2257V|PDE4DIP_uc001elx.4_Missense_Mutation_p.A2151V|PDE4DIP_uc001elv.4_Missense_Mutation_p.A1264V	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2257					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.A2257V(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGCAGGGCCGCTCTCCAGAA	0.572000			T	PDGFRB	MPD								6	69					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37390250	37390250	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:37390250C>T	uc001zjr.3	-	1	1237	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	MEIS2_uc001zjl.3_Missense_Mutation_p.A42T|MEIS2_uc010ucj.2_Missense_Mutation_p.A42T|MEIS2_uc001zjm.3_5'UTR|MEIS2_uc001zjn.3_5'UTR|MEIS2_uc001zjo.3_Missense_Mutation_p.A55T|MEIS2_uc001zjp.3_Missense_Mutation_p.A55T|MEIS2_uc001zjs.3_Missense_Mutation_p.A55T|MEIS2_uc001zju.3_Missense_Mutation_p.A42T|MEIS2_uc001zjt.3_Missense_Mutation_p.A55T	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	55					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGTGCGGGGCGTGCGCGCCG	0.667000													36	7					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128003021	128003021	+	Silent	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:128003021C>T	uc004bpn.3	-	1	549	c.288G>A	c.(286-288)aaG>aaA	p.K96K		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	96					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CGATGAGCCGCTTGGCGTCAA	0.567000										Prostate(1;0.17)			34	63					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150267643	150267643	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:150267643A>C	uc003qno.3	+	2	558	c.485A>C	c.(484-486)cAt>cCt	p.H162P	ULBP2_uc011eeh.1_Missense_Mutation_p.H162P|ULBP2_uc010kij.3_Missense_Mutation_p.H162P	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	162	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		ACAACGGTTCATCCTGGAGCC	0.473000													32	182					0	0	1	0	0
USP50	373509	broad.mit.edu	37	15	50838720	50838720	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:50838720C>A	uc021sky.1	-	0	183	c.3G>T	c.(1-3)atG>atT	p.M1I	USP50_uc021skx.1_5'Flank	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.	1					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GCTGAGAAGTCATTTTAATGG	0.443000													23	7					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195510912	195510912	+	Silent	SNP	T	T	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195510912T>A	uc021xjp.1	-	1	7695	c.7539A>T	c.(7537-7539)ctA>ctT	p.L2513L	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	272					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGTGACAGGTAGAGGGGTGG	0.562000													3	10					0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000													4	44					0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64873902	64873902	+	Splice_Site	SNP	G	G	A	rs56196591	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:64873902G>A	uc001ssc.2	+	7	971	c.812_splice	c.e7+1	p.R271_splice		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	271	Protein kinase.		R -> Q (in dbSNP:rs56196591).		I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AGTCTTTCTCGGTAAGTATGG	0.398000													14	36					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52773451	52773451	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:52773451C>A	uc003xqx.4	-	1	602	c.261G>T	c.(259-261)ctG>ctT	p.L87L	PCMTD1_uc011ldn.2_Intron|PCMTD1_uc010lya.3_Intron|PCMTD1_uc011ldo.1_Silent_p.L87L	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	87						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCCACTTCCCAGGTTAAGAA	0.333000													28	84					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70784520	70784520	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chrX:70784520G>A	uc004eaa.2	+	18	2744	c.2506G>A	c.(2506-2508)Ggg>Agg	p.G836R	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.G826R|OGT_uc004eac.3_Missense_Mutation_p.G697R|OGT_uc004ead.3_Missense_Mutation_p.G455R	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	836					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTCTCAGTACGGGTTACCAGA	0.398000													12	16					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511046	48511046	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:48511046C>A	uc010rhx.2	+	0	702	c.702C>A	c.(700-702)gcC>gcA	p.A234A		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGCAAAAAGCCCTCTCAACCT	0.433000													12	166					0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57114099	57114099	+	Silent	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:57114099C>T	uc001nju.3	+	1	385	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	67					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGAAGGGCTCCGGACTCTACG	0.557000													4	65					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95954317	95954317	+	Silent	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:95954317T>C	uc002suk.3	+	21	2554	c.2421T>C	c.(2419-2421)cgT>cgC	p.R807R	PROM2_uc002suh.2_Silent_p.R807R|PROM2_uc002sui.3_Silent_p.R807R|PROM2_uc002suj.3_Silent_p.R461R|PROM2_uc002sul.3_Silent_p.R333R|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	807						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AATACTTCCGTCCTATCCGGA	0.602000													6	127					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237586402	237586402	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:237586402A>T	uc001hyl.1	+	11	979	c.859A>T	c.(859-861)Agc>Tgc	p.S287C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	287	MIR 4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S285G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGAGTGGAAGCCACATAAG	0.423000													4	131					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193188759	193188759	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:193188759G>T	uc003ftd.3	-	8	940	c.832C>A	c.(832-834)Cgc>Agc	p.R278S	ATP13A4_uc003fte.1_Missense_Mutation_p.R278S|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc003ftf.4_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	278					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACCAGGACGCGTGATTCCAGC	0.443000													29	221					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68397009	68397009	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:68397009T>G	uc003xxq.4	-	6	908	c.652A>C	c.(652-654)Aag>Cag	p.K218Q	CPA6_uc003xxr.4_Missense_Mutation_p.K70Q|CPA6_uc003xxs.2_Missense_Mutation_p.K218Q	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	218					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGGTCACTCTTATATGTTAGA	0.353000													7	87					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100355878	100355878	+	Silent	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:100355878C>T	uc003uwj.3	+	15	3528	c.3363C>T	c.(3361-3363)ccC>ccT	p.P1121P	ZAN_uc003uwk.3_Silent_p.P1121P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1121	VWFC 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTGGCCCGGCAGTCGGG	0.587000													10	36					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161529829	161529829	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:161529829A>C	uc003qtn.3	+	21	4316	c.4174A>C	c.(4174-4176)Aaa>Caa	p.K1392Q	MAP3K4_uc010kkc.1_Missense_Mutation_p.K1388Q|MAP3K4_uc003qto.3_Missense_Mutation_p.K1342Q|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.K845Q|MAP3K4_uc003qtp.3_Missense_Mutation_p.K328Q|MAP3K4_uc003qtq.3_Missense_Mutation_p.K81Q	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1392	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGACGAATTGAAAATATTCGA	0.408000													82	77					0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142432356	142432356	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:142432356C>T	uc003ywg.1	+	0	350	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	PTP4A3_uc003ywh.1_Missense_Mutation_p.R6C|PTP4A3_uc010met.1_Missense_Mutation_p.R6C	NM_032611	NP_116000	O75365	TP4A3_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 3 (PTP4A3), transcript variant 1, mRNA.	6						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TCGGATGAACCGCCCGGCCCC	0.642000													32	186					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10906831	10906831	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:10906831G>C	uc002mpt.2	+	9	1481	c.1291G>C	c.(1291-1293)Gtt>Ctt	p.V431L	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Intron|DNM2_uc010dxl.2_Missense_Mutation_p.V431L|DNM2_uc002mpu.2_Missense_Mutation_p.V431L|DNM2_uc002mpv.2_Intron|DNM2_uc002mpw.3_Intron	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	431					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGTCGACCTGGTTATCCAGGA	0.532000			"""F, N, Splice, Mis, O"""		ETP ALL								38	133					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152658	117152658	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:117152658C>T	uc001pqt.3	+	10	1429	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	RNF214_uc001pqu.3_Missense_Mutation_p.R462W|RNF214_uc010rxf.2_Missense_Mutation_p.R307W	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	462	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCTGGCTCCTCGGATGCCCTT	0.527000													72	113					0	0	1	0	0
ARMC1	55156	broad.mit.edu	37	8	66525567	66525567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:66525567G>T	uc003xvl.3	-	3	632	c.377C>A	c.(376-378)tCa>tAa	p.S126*	ARMC1_uc011leo.2_Intron	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	126					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CCTTCGACGTGAATTCATCTC	0.398000													27	100					0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	X	129629216	129629216	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chrX:129629216G>T	uc010nrh.3	+	0	302	c.84G>T	c.(82-84)tgG>tgT	p.W28C	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	28								p.L27L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AAGTTCTGTGGGTGTGGTGTT	0.532000													11	48					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357868	149357868	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr4:149357868T>C	uc003ilj.4	-	1	508	c.145A>G	c.(145-147)Agc>Ggc	p.S49G	NR3C2_uc003ilk.4_Missense_Mutation_p.S49G|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	49	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GAAACACAGCTTACGTTGACA	0.483000													19	44					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362947	128362947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:128362947C>G	uc003kuy.3	+	7	1773	c.1377C>G	c.(1375-1377)taC>taG	p.Y459*	SLC27A6_uc003kuz.3_Nonsense_Mutation_p.Y459*	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	459					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAGATGTTTACCTTAATACTG	0.388000													21	60					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Silent	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:101576467G>T	uc003knm.3	-	10	2118	c.1831C>A	c.(1831-1833)Cgg>Agg	p.R611R		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.R611L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338000													26	30					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3107185	3107185	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:3107185C>G	uc002cth.3	+	4	1050	c.813C>G	c.(811-813)gaC>gaG	p.D271E	BC045731_uc002ctj.1_Intron	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	271					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CTCAGGATGACCGCGATGGCC	0.642000													16	225					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331426	55331426	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:55331426A>T	uc002qhl.4	+	3	677	c.614A>T	c.(613-615)cAg>cTg	p.Q205L	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.Q205L|KIR3DL2_uc010esf.3_Missense_Mutation_p.Q110L|KIR3DL2_uc021vbo.1_Missense_Mutation_p.Q205L|KIR3DL2_uc002qhk.4_Missense_Mutation_p.Q205L			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	205					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACCCCCTATCAGTTGTCAGCT	0.522000													27	173					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138685	126138685	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:126138685T>C	uc001uhe.1	+	8	2674	c.2666T>C	c.(2665-2667)gTg>gCg	p.V889A	TMEM132B_uc001uhf.1_Missense_Mutation_p.V401A	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	889						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GACCTCACAGTGACCTCAAGG	0.507000													8	93					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:89774252G>A	uc010rua.2	+	7	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(6)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													4	21					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415320	77415320	+	Silent	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:77415320C>G	uc004ajl.1	-	16	2326	c.2088G>C	c.(2086-2088)acG>acC	p.T696T	TRPM6_uc004ajk.1_Silent_p.T691T|TRPM6_uc022bib.1_Silent_p.T691T|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	696					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGAGTTCATACGTCAACAGCG	0.512000													12	35					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:8095990C>G	uc011kwt.2	+	7		c.1185C>G			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Intron			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						CCAGGAGCCCCGAGACCTGCA	0.647000													6	4					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29450452	29450452	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:29450452G>A	uc002rmy.3	-	16	3854	c.2902C>T	c.(2902-2904)Cca>Tca	p.P968S		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	968					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P968Q(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTTAAAGCTGGGGTGTACAGG	0.517000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				17	113					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119027213	119027213	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:119027213C>A	uc001ldd.2	+	12	1315	c.1152C>A	c.(1150-1152)ctC>ctA	p.L384L	SLC18A2_uc009xyy.2_Silent_p.L181L	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	384					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTTATGGACTCATAGCTCCGA	0.373000													3	10					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803080	27803080	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:27803080C>T	uc002rkz.4	+	0	3692	c.3641C>T	c.(3640-3642)aCa>aTa	p.T1214I	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1214										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCTACTTCCACAATAGATTTG	0.463000													34	67					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90026330	90026330	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:90026330C>T	uc002bnz.2	-	2	514	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Missense_Mutation_p.V48M	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	164					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AACTCATTCACAGCGAAGAGG	0.542000													4	7					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14070448	14070448	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:14070448G>A	uc002mxt.3	+	7	1280	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	DCAF15_uc002mxu.3_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	425										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTTCGTGGCCGCAACCTGCGG	0.697000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	255					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216672	3216672	+	Splice_Site	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:3216672A>C	uc022aqr.1	-	21	3694	c.3304_splice	c.e21+1	p.A1102_splice	CSMD1_uc011kwj.2_Splice_Site_p.A495_splice|CSMD1_uc003wqe.3_Splice_Site_p.A259_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1103	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGACCACCTACCCACACACC	0.587000													9	29					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182559896	182559896	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:182559896G>T	uc003flb.3	+	7	947	c.690G>T	c.(688-690)atG>atT	p.M230I		NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	230					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CCCAACAAATGGAAGAAATTG	0.318000													4	36					0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100862412	100862412	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:100862412C>T	uc004ayd.2	-	2	356	c.338G>A	c.(337-339)gGg>gAg	p.G113E	TRIM14_uc004ayg.1_Missense_Mutation_p.G113E|TRIM14_uc004ayh.1_Missense_Mutation_p.G113E	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	113						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGTGAATTTCCCCTTCAGCCA	0.428000													14	20					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194058	36194058	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:36194058T>G	uc003tfa.3	+	1	765	c.125T>G	c.(124-126)aTc>aGc	p.I42S		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	42	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CGGCTCAACATCAACACTGCC	0.597000													80	62					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48132985	48132985	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:48132985C>T	uc001rpz.4	-	23	2952	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	AL831948_uc001rpv.3_Intron|RAPGEF3_uc001rpw.3_Missense_Mutation_p.R94Q|RAPGEF3_uc001rpx.3_Missense_Mutation_p.R216Q|RAPGEF3_uc010sln.2_Missense_Mutation_p.R256Q|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.R759Q|RAPGEF3_uc009zkq.3_Missense_Mutation_p.R759Q	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	759					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GAGGGCCAGTCGGTATACCCG	0.597000													16	60					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943399	17943399	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:17943399C>T	uc002nhn.4	-	18	2709	c.2609G>A	c.(2608-2610)cGg>cAg	p.R870Q	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.R870Q	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	870	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGAATCTCCCGCTGAAAGTC	0.577000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								34	148					0	0	1	0	0
COQ7	10229	broad.mit.edu	37	16	19079036	19079036	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:19079036C>T	uc002dfr.3	+	0	120	c.50C>T	c.(49-51)cCg>cTg	p.P17L	COQ7_uc021tee.1_5'Flank|COQ7_uc002dfs.3_5'Flank	NM_016138	NP_001177912	Q99807	COQ7_HUMAN	Homo sapiens coenzyme Q7 homolog, ubiquinone (yeast) (COQ7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	17					ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						cggctgcgcccgggggcccgg	0.627000													9	45					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr20:29625971C>A	uc010ztl.1	+	1	157	c.125C>A	c.(124-126)cCa>cAa	p.P42Q	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328000													4	90					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237870323	237870323	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:237870323G>A	uc001hyl.1	+	67	9775	c.9655G>A	c.(9655-9657)Gtg>Atg	p.V3219M	RYR2_uc010pxz.1_Missense_Mutation_p.V174M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3219					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAGAAATCGTGGAATTAGC	0.448000													19	161					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511689	195511689	+	Silent	SNP	G	G	T	rs71634713		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195511689G>T	uc021xjp.1	-	1	6918	c.6762C>A	c.(6760-6762)acC>acA	p.T2254T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1037					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGAGGGGTGGTGTCACCTG	0.582000													3	21					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14487604	14487604	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:14487604C>G	uc003jff.3	+	47	6873	c.6867C>G	c.(6865-6867)aaC>aaG	p.N2289K	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.N1938K	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2289					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCAGAGGAACCACAgcgggg	0.746000													4	36					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10158113	10158113	+	RNA	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:10158113T>C	uc010dwx.2	+	10		c.1556T>C								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TGTTGTACAATTTCAGGGATC	0.453000													32	122					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000													6	85					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72552578	72552578	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:72552578G>A	uc009ytl.3	-	17	2198	c.1977C>T	c.(1975-1977)taC>taT	p.Y659Y	FCHSD2_uc010rrg.2_Silent_p.Y523Y|FCHSD2_uc001oth.4_Silent_p.Y603Y|ATG16L2_uc009ytj.2_Intron	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	659							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGGCTGGTCGTACAACGGCA	0.617000													12	4					0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4892429	4892429	+	Silent	SNP	C	C	T	rs145508163		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:4892429C>T	uc003mwi.3	+	3	800	c.669C>T	c.(667-669)gtC>gtT	p.V223V	CDYL_uc003mwj.3_Silent_p.V169V|CDYL_uc003mwk.3_Intron|CDYL_uc011dhx.2_Silent_p.V37V|CDYL_uc011dhy.2_Silent_p.V37V	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	223					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TGGACCCCGTCGAGCAGGGTC	0.617000													4	98					0	0	1	0	0
C1orf38	9473	broad.mit.edu	37	1	28209315	28209315	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:28209315C>T	uc001bpc.4	+	3	1508	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Missense_Mutation_p.P298S|C1orf38_uc010ofo.2_Missense_Mutation_p.P365S	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	494	CABIT 2.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AGACTCTGAGCCTGGGATGTG	0.617000													30	59					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			50	7					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622201	41622201	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:41622201C>A	uc002opu.1	+	1	164	c.108C>A	c.(106-108)ccC>ccA	p.P36P	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Silent_p.P36P|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	36					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GACCCAGACCCCTCTCAATCC	0.547000													100	247					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85890855	85890855	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:85890855C>A	uc002sqj.3	-	7	924	c.824G>T	c.(823-825)gGc>gTc	p.G275V	SFTPB_uc002sqi.3_Missense_Mutation_p.G275V|SFTPB_uc002sqh.3_Missense_Mutation_p.G275V|SFTPB_uc010ysw.1_5'Flank	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	263	Saposin B-type 2.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGCATGCGGCCCAGCAGCGT	0.682000													3	20					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43243763	43243763	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr21:43243763G>A	uc002yzq.1	-	20	2881	c.2770C>T	c.(2770-2772)Cac>Tac	p.H924Y	PRDM15_uc002yzo.3_Missense_Mutation_p.H595Y|PRDM15_uc002yzp.3_Missense_Mutation_p.H615Y|PRDM15_uc002yzr.1_Missense_Mutation_p.H615Y	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	924					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTGTCGCCGTGGGTGAGCAGG	0.607000													4	8					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389633	57389633	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:57389633T>C	uc021qzf.1	+	0	640	c.640T>C	c.(640-642)Tgg>Cgg	p.W214R	GPR182_uc001smk.3_Missense_Mutation_p.W214R	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	214						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GTACAGCACCTGGGCCCTGGC	0.632000													17	26					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106874060	106874060	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:106874060A>G	uc004bbv.3	+	9	1507	c.1219A>G	c.(1219-1221)Aat>Gat	p.N407D	SMC2_uc004bbu.1_Missense_Mutation_p.N407D|SMC2_uc004bbw.3_Missense_Mutation_p.N407D|SMC2_uc011lvl.2_Missense_Mutation_p.N407D|SMC2_uc010mtg.1_Missense_Mutation_p.N262D|SMC2_uc010mth.1_Missense_Mutation_p.N357D|SMC2_uc004bbx.3_Missense_Mutation_p.N407D	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	407					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGCCTGTAAAAATGATATAAG	0.418000													25	1					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:204588892G>A	uc021phy.1	-	0	229	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Nonsense_Mutation_p.Q77*|LRRN2_uc001hbf.1_Nonsense_Mutation_p.Q77*|LRRN2_uc009xbf.1_Nonsense_Mutation_p.Q77*|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	77					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGTTGCTCTGCAGGAGCAGG	0.617000													5	94					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	617618	617618	+	Silent	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:617618A>G	uc001lql.3	-	14	2538	c.2271T>C	c.(2269-2271)ggT>ggC	p.G757G	IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Silent_p.G757G|CDHR5_uc009ycd.3_Silent_p.G751G|CDHR5_uc001lqk.3_Silent_p.G563G|CDHR5_uc009ycc.3_Silent_p.G591G	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	757					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCTCAGGGGCACCGCCTGGGG	0.776000													3	18					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13612329	13612329	+	Silent	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:13612329G>T	uc011avc.2	+	1	856	c.474G>T	c.(472-474)cgG>cgT	p.R158R	FBLN2_uc011auz.2_Silent_p.R184R|FBLN2_uc011avb.2_Silent_p.R158R|FBLN2_uc011ava.2_Silent_p.R158R	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	158	N.|Subdomain NA (Cys-rich).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGCCCTGCCGGGCCTGCCACT	0.687000													11	27					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49442982	49442982	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:49442982G>A	uc001rta.4	-	11	3926	c.3926C>T	c.(3925-3927)cCa>cTa	p.P1309L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1309	Arg-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCGTCTTCCTGGGAAACTGCT	0.547000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			8	13					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415783	19415783	+	RNA	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr13:19415783G>A	uc010tcj.1	-	0		c.30327C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AGCAGCAGAAGATGTACTATG	0.308000													4	39					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109494590	109494590	+	Silent	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:109494590A>C	uc010sxi.2	+	1	291	c.187A>C	c.(187-189)Aga>Cga	p.R63R	USP30_uc001tnu.4_Silent_p.R32R|LOC100131733_uc021rdn.1_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	63					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.V62A(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AAAGAAGCGTAGAAAAGGTAA	0.423000													16	55					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150267593	150267593	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:150267593G>A	uc003qno.3	+	2	508	c.435G>A	c.(433-435)ggG>ggA	p.G145G	ULBP2_uc011eeh.1_Silent_p.G145G|ULBP2_uc010kij.3_Silent_p.G145G	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	145	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity	p.G145E(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GTTTCGATGGGCAGATCTTCC	0.507000													105	123					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739287	138739287	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:138739287G>C	uc003esy.1	-	0	482	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	73										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGTCGTCCAGGGGCACACGC	0.701000													6	58					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158468184	158468184	+	Silent	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:158468184A>G	uc011kwe.1	-	11	1456	c.1311T>C	c.(1309-1311)cgT>cgC	p.R437R	NCAPG2_uc010lqu.1_Silent_p.R229R|NCAPG2_uc003wnx.1_Silent_p.R437R|NCAPG2_uc003wnv.1_Silent_p.R437R|NCAPG2_uc003wnw.1_Non-coding_Transcript	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	437					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGACAGAACAACGAACATCAG	0.348000													12	22					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113469	55113469	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:55113469A>G	uc003pcl.3	+	1	571	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R21G	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	86					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R86M(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCACCACATGAGGACGGTAAC	0.448000													17	125					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11651054	11651054	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:11651054T>A	uc002gne.3	+	31	6649	c.6581T>A	c.(6580-6582)aTc>aAc	p.I2194N	DNAH9_uc010coo.3_Missense_Mutation_p.I1488N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2194	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGGCATCATCAATCCAGCC	0.527000													26	34					0	0	1	0	0
LOC285359	285359	broad.mit.edu	37	3	101431342	101431342	+	RNA	SNP	G	G	A	rs2317940		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:101431342G>A	uc003dvj.3	+	0		c.65G>A								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		CAGACACTGAGTGGAATGACA	0.453000													5	26					0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48545806	48545806	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:48545806G>A	uc010dbr.3	-	0	422	c.369C>T	c.(367-369)acC>acT	p.T123T	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Silent_p.T123T|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	123					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGGTCAGCTCGGTCAGGTCGT	0.602000													7	148					0	0	1	0	0
LOC285359	285359	broad.mit.edu	37	3	101431291	101431291	+	RNA	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:101431291C>T	uc003dvj.3	+	0		c.14C>T								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		GCACAGCTGGCTTGAGCAACT	0.453000													4	30					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145538291	145538291	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:145538291C>T	uc001eoa.3	+	22	2894	c.2818C>T	c.(2818-2820)Cac>Tac	p.H940Y	ITGA10_uc010oyv.2_Missense_Mutation_p.H809Y|ITGA10_uc009wiw.3_Missense_Mutation_p.H797Y|ITGA10_uc010oyw.2_Missense_Mutation_p.H885Y	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	940					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATATGAGCCCCACCTCCTGTT	0.552000													47	123					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18215312	18215312	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:18215312G>C	uc003nco.1	+	12	1650	c.1575G>C	c.(1573-1575)caG>caC	p.Q525H	KDM1B_uc003ncn.1_Missense_Mutation_p.Q496H|KDM1B_uc003ncp.1_Missense_Mutation_p.Q81H|KDM1B_uc003ncq.1_Missense_Mutation_p.Q81H	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	728					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ATGACAAACAGGTGCTGCAGC	0.577000													7	56					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1075524	1075524	+	Silent	SNP	G	G	A	rs137990661	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:1075524G>A	uc003jbu.3	-	14	1995	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	643					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCCAGCGATGAGCATGGCGG	0.637000													30	62					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920676	155920676	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:155920676G>A	uc001fmu.2	-	23	3034	c.2779C>T	c.(2779-2781)Cgg>Tgg	p.R927W	ARHGEF2_uc001fmq.2_Missense_Mutation_p.R121W|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R855W|ARHGEF2_uc001fms.2_Missense_Mutation_p.R882W|ARHGEF2_uc001fmt.2_Missense_Mutation_p.R883W	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	883					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGCGCCGCCGAGGATCCACA	0.677000													36	151					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2911416	2911416	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:2911416G>A	uc010ckd.3	+	16	1561	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R	RAP1GAP2_uc010cke.3_Missense_Mutation_p.G476R	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	491					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGAGGCCACGGGGGGTTCCT	0.582000													10	64					0	0	1	0	0
ZSWIM7	125150	broad.mit.edu	37	17	15884460	15884460	+	Splice_Site	SNP	T	T	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:15884460T>A	uc002gpe.3	-	4	300	c.202_splice	c.e4-1	p.V68_splice	ZSWIM7_uc002gpf.3_Splice_Site_p.V68_splice|ZSWIM7_uc002gpg.3_Splice_Site	NM_001042698	NP_001036163	Q19AV6	ZSWM7_HUMAN	Homo sapiens zinc finger, SWIM-type containing 7 (ZSWIM7), transcript variant 2, mRNA.	68					DNA recombination|DNA repair	nucleus	zinc ion binding			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		TCCAAGGACCTACAAAGAAAG	0.423000													10	25					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:26880266G>A	uc001ist.3	+	1		c.501G>A								Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		ACCAAGCCCAGTGGACAGATG	0.443000													5	73					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40297490	40297490	+	Silent	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr13:40297490A>C	uc001uxh.2	+	15	1705	c.1605A>C	c.(1603-1605)acA>acC	p.T535T	COG6_uc001uxi.2_Silent_p.T483T|COG6_uc010acb.2_Silent_p.T535T	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	535					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATTTGGACACACTTATAAATG	0.368000													14	17					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190606164	190606164	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:190606164C>T	uc002uqw.2	+	19	3885	c.3797C>T	c.(3796-3798)tCg>tTg	p.S1266L	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Missense_Mutation_p.S362L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1266						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CATTTGTACTCGGGAATAGAA	0.358000													38	18					0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	40998212	40998212	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:40998212G>C	uc003jmj.4	-	41	5190	c.4700C>G	c.(4699-4701)gCt>gGt	p.A1567G	HEATR7B2_uc003jmi.4_Missense_Mutation_p.A1122G	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1567							binding	p.A1567S(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGCAGCCTCAGCTGCTCTCTG	0.468000													35	224					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195202	19195202	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:19195202C>A	uc002dfw.3	+	4	1015	c.684C>A	c.(682-684)aaC>aaA	p.N228K	SYT17_uc002dfx.3_Missense_Mutation_p.N167K|SYT17_uc002dfy.3_Missense_Mutation_p.N224K	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	228	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CGCACTCCAACCCCTACGTCA	0.612000													29	304					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414700	68414700	+	RNA	SNP	G	G	A	rs142306528		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:68414700G>A	uc004aex.3	+	0		c.1255G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ttgggaggctgaggatcacct	0.418000													3	14					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511886	195511886	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195511886G>C	uc021xjp.1	-	1	6721	c.6565C>G	c.(6565-6567)Cac>Gac	p.H2189D	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	978					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.602000													3	30					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:203821496T>C	uc001hac.3	+	19	3018	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_uc001had.3_Missense_Mutation_p.L801P|ZC3H11A_uc001hae.3_Missense_Mutation_p.L801P|ZC3H11A_uc001haf.3_Missense_Mutation_p.L801P|ZC3H11A_uc010pqm.2_Missense_Mutation_p.L747P	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	801							nucleic acid binding|protein binding|zinc ion binding	p.L801P(6)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388000													4	59					0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606605	82606605	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:82606605C>G	uc011lfs.2	-	0	603	c.603G>C	c.(601-603)ttG>ttC	p.L201F		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	201						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GCGCCTCAGGCAATGCCACAA	0.478000													10	301					0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51132202	51132202	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:51132202G>C	uc001wyh.1	-	1	568	c.230C>G	c.(229-231)cCa>cGa	p.P77R	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	77					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TCTTTGAATTGGAGTTCTAAG	0.393000													5	12					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514331	79514331	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:79514331C>T	uc002kaq.3	-	4	1850	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	C17orf70_uc002kao.1_Missense_Mutation_p.D242N|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.D442N	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	593					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.D442N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACGGGCAGGTCGAGCCCGCCG	0.682000													31	80					0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95900250	95900250	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:95900250A>T	uc003yhc.3	-	6	609	c.505T>A	c.(505-507)Ttt>Att	p.F169I	CCNE2_uc003yhd.2_Missense_Mutation_p.F169I	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	169					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTATCAAAAAAGTCTTGTGCA	0.294000													58	21					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:46094975G>A	uc002pcm.3	-	1	1095	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.N50N	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617000													4	131					0	0	1	0	0
DNAJB12	54788	broad.mit.edu	37	10	74096299	74096299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:74096299C>T	uc001jsz.2	-	6	1241	c.1091G>A	c.(1090-1092)tGg>tAg	p.W364*	DNAJB12_uc001jta.2_Nonsense_Mutation_p.W364*|DNAJB12_uc010qjv.1_Nonsense_Mutation_p.W364*	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	330					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						CTTCTCCTTCCAGCAGTTGTT	0.562000													43	101					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78709043	78709043	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:78709043C>A	uc001jxn.3	-	21	2743	c.2566G>T	c.(2566-2568)Ggc>Tgc	p.G856C	KCNMA1_uc021ptu.1_Missense_Mutation_p.G748C|KCNMA1_uc001jxj.2_Missense_Mutation_p.G802C|KCNMA1_uc001jxk.1_Missense_Mutation_p.G474C|KCNMA1_uc009xrt.1_Missense_Mutation_p.G647C|KCNMA1_uc001jxl.1_Missense_Mutation_p.G481C|KCNMA1_uc001jxo.3_Missense_Mutation_p.G839C|KCNMA1_uc001jxm.3_Missense_Mutation_p.G798C|KCNMA1_uc001jxq.3_Missense_Mutation_p.G801C	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	856	Segment S9.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TTCCGGAGGCCGATCAGGGCT	0.557000													7	78					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394337	64394337	+	Silent	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:64394337T>C	uc003pep.1	+	2	739	c.714T>C	c.(712-714)caT>caC	p.H238H	PHF3_uc010kaf.1_Silent_p.H238H|PHF3_uc003pem.2_Silent_p.H191H|PHF3_uc010kag.1_Silent_p.H150H|PHF3_uc010kah.1_Silent_p.H52H|PHF3_uc003pen.2_Silent_p.H150H|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Silent_p.H238H	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	238					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATTCTAAGCATAAGTGTAATA	0.348000													4	122					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102595040	102595040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:102595040C>T	uc022bky.1	+	4	1822	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	NR4A3_uc004bae.3_Nonsense_Mutation_p.R341*|NR4A3_uc004baf.1_Nonsense_Mutation_p.R341*	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	341					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAAGAGACGTCGAAACCGATG	0.368000			T	EWSR1	extraskeletal myxoid chondrosarcoma								44	5					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015930	145015930	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:145015930delT	uc001elx.4	-	2	541	c.158delA	c.(157-159)cagfs	p.Q53fs	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elm.4_5'UTR|PDE4DIP_uc001eln.4_Frame_Shift_Del_p.Q53fs|PDE4DIP_uc001elo.3_Frame_Shift_Del_p.Q124fs|PDE4DIP_uc001emh.3_Frame_Shift_Del_p.Q124fs|BX647792_uc001emj.3_Intron	NM_001198832	NP_001185761	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 8, mRNA.	0					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAATATGTCTGCACAAACGG	0.453			T	PDGFRB	MPD								19	657	---	---	---	---					
MIR570	693155	broad.mit.edu	37	3	195426368	195426369	+	Splice_Site	INS	-	-	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195426368_195426369insC	uc021xjf.1	+	1		c.97_splice	c.e1+1		AK128346_uc011btd.1_5'Flank|AK128346_uc003fux.1_5'Flank					Homo sapiens microRNA 570 (MIR570), microRNA.																		cctgaTGGAGTCCCCCTTGCCA	0.426													7	7	---	---	---	---					
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs63118461	by1000genomes	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195512373_195512374insGAT	uc021xjp.1	-	1	6233_6234	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	798					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579													8	19	---	---	---	---					
LYRM2	57226	broad.mit.edu	37	6	90348404	90348404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:90348404delA	uc003pnm.3	-	0	71	c.32delT	c.(31-33)ctafs	p.L11fs	LYRM2_uc010kce.2_5'Flank|LYRM2_uc003png.3_Non-coding_Transcript|LYRM2_uc010kcf.1_5'Flank|LYRM2_uc010kcg.3_5'Flank|LYRM2_uc003pnl.4_5'Flank|LYRM2_uc021zcr.1_5'Flank	NM_020466	NP_065199	Q9NU23	LYRM2_HUMAN	Homo sapiens LYR motif containing 2 (LYRM2), transcript variant 1, mRNA.	11										kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		CTTTAACGTTAGCGTCGCTGG	0.632													11	404	---	---	---	---					
FAM183B	340286	broad.mit.edu	37	7	38726364	38726364	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:38726364delT	uc011kbd.2	-	0	326	c.30delA	c.(28-30)caafs	p.Q10fs						Homo sapiens family with sequence similarity 183, member B (FAM183B), non-coding RNA.											endometrium(1)|lung(7)	8						AGGAAGTTCCTTGAGGTAGGG	0.607													2	4	---	---	---	---					
